Autism is an affliction that falls into a group of symptoms called withdrawal, or avoidance of contact with the outside world – with people and the environment. It is believed to be a brain disorder that may have a genetic basis. However, despite the identification of many factors that increase the risk of autism, its cause is not yet fully understood.

What is autism?

Autism is also called Kanner syndrome after the psychiatrist who first described an autistic child in 1943. Autism is a neurological disorder that affects the brain and usually has a genetic basis. The first symptoms appear as early as childhood and actually last until the end of life.

Autism is characterised by the child’s lack of response to commands, lack of playfulness with peers, difficulties in expressing emotions or communicating both by gestures and speech. The behaviour of an autistic child is often perceived as strange.

Autism is understood as a spectrum. This means that autism runs differently for each person. People with diagnoses on the autism spectrum have very different intensities of behaviours and traits resulting from autism.

The disorder has many variations, and there are times when a child simply develops more slowly – which is often mistaken for autism. Although there are many factors that increase the risk of autism, the specific causes of the disorder are still not known.

YOU NEED TO KNOW
The word ‘autism’ (autism)comes from the Greek word autos, meaning ‘alone’. The term was introduced into psychiatry by Eugen Bleuler in 1911 to describe an inability to maintain relationships with the environment. According to the Swiss psychiatrist, real relationships were replaced by dreams or delusions in autistic people.

Causes of autism

It is not entirely known what actually causes autism, but genetics (a large number of genes responsible for autism have been identified) and the environment are thought to be the main factors in the development of the disorder.

Studies in autistic patients have shown some abnormalities in several brain regions. In addition to this, other studies suggest that autistic people have poor levels of serotonin and other neurotransmitters in the brain. All of this may suggest that disruptions in early fetal brain development, as well as abnormalities in genes, may influence the development of autism.

  • Are you pregnant? Remember to have regular check-ups. We recommend Pregnancy Screening – a blood test package that also allows blood sampling at the patient’s home.

In about 15-20 per cent of children with autism, a genetic mutation is present that increases the risk of developing the disorder. Some genetically determined diseases, such as broken X chromosome syndrome or Rett syndrome, are well known to increase the risk of autism.

If parents already have one autistic child, the risk that a second child will also be born with the disorder is nearly 20 per cent. – this is demonstrated by a groundbreaking study by researchers at the University of California, Davis. When parents have two children with autism, the risk that the third will also be autistic is already as high as 32 per cent, comments study author Sally Ozonoff.

A number of studies have reported that the anticonvulsant drug (valproic acid) may increase the risk of autism in children who have been exposed to it before they are born.

In contrast, another study found a higher risk of the disorder among children exposed in fetal life to anti-depressants.

In contrast, prenatal use of vitamins has been linked to a lower risk of autism. This is why pregnant women should supplement vitamins and minerals.

In summary, 4 factors predominate among the causes of autism: genetic factors, developmental factors, infectious factors, and factors related to pregnancy and birth.

Genetic factors influencing the development of autism:

  • Fragile X chromosome syndrome – is an ailment present in 2-3% of people with autism spectrum disorders. When this cause of autism was discovered, it was believed that it would solve the problem of autism formation. However, later studies have shown that it is only observed in autistic boys with a frequency of 2.6%;
  • tuberous sclerosis – a condition present in about 2% of people with autism spectrum disorders;
  • mutation of the ADA2 gene – is associated with abnormal metabolism of purine bases and is present in approximately 20% of children on the autism spectrum;
  • mutations of certain regions of chromosome 2. and chromosome 7 – as found in a study that involved 150 pairs of siblings.

Developmental factors in brain structure and function affecting the development of autism:

  • increased serotonin levels in the blood;
  • changes in the GABA-ergic system;
  • abnormalities of synaptic plasticity mechanisms related to mTOR;
  • increased brain volume of autistic children until they reach the age of 4;
  • overactivity of the amygdala;
  • different perception of human faces – paying more attention to the mouth area and less to the eye area;
  • differences regarding activity of the right temporal lobe of the brain in activities requiring recognition of other people’s experiences and emotions;
  • lower left frontal lobe activity for tasks involving memory and language skills;
  • enlargement of the brain ventricles.

Infectious factors influencing the development of autism:

  • immunological causes of autism such as maternal antibodies directed against fetal tissues, especially neural tissue, are possible.

Factors related to pregnancy and childbirth affecting the development of autism:

  • increased prevalence of autism in a group of children with a genetic predisposition who had perinatal complications;
  • bleeding during pregnancy;
  • diabetes in pregnancy;
  • fetal hypoxia;
  • complications related to the umbilical cord;
  • delayed foetal development;
  • low birth weight;
  • low Apgar score at the fifth minute after birth;
  • congenital malformations;
  • blood group incompatibility between mother and foetus in AB0 and Rh group systems – serological conflict;
  • high bilirubin level in the newborn;
  • advanced age of the baby’s father;
  • advanced age of the child’s mother.

Myths about the causes of autism

Despite numerous studies and research on autism, myths related to the causes of autism can still be found in popular opinion. Foremost among these are pointed out:

  • MMR vaccination and autism – there is currently no scientific evidence that measles, mumps and rubella vaccines affect the development of autism. Nor is there any confirmation that the mercury-organic preservative, thimerosal, present in MMR vaccines would contribute to the occurrence or development of autism. The concentration of this compound in vaccines ranges from 0.003% to 0.01%, meaning that there is approximately 25 μg of mercury per 0.5 ml dose in formulations containing 0.01% thimerosal. This misconception of a cause-and-effect relationship between vaccination and autism is a result of the temporal coincidence between the vaccination calendar and the appearance of the first symptoms of autism in children;
  • parent-child relationships and autism – the original assumptions of Leo Kanner, the Austrian-American psychiatrist who, in 1943, was the first to describe the syndrome of symptoms that make up early childhood autism, turned out to be incorrect. He believed that the emotional coldness of parents led to the development of childhood autism. Comparative studies of parents of autistic and non-autistic children revealed no significant differences between the two groups.

Autism – symptoms

In typical forms, symptoms of autism appear before the age of 3. The first symptoms in a child are usually observed by the parents – in some cases as early as infancy. They are concerned that the child is too polite, quiet, does not flinch at noise, does not focus on people coming in, and becomes stiff when picked up. In addition, the child stares for hours at a single point, e.g. a ticking clock, does not babble and does not develop speech. It also happens that initially the child’s development is normal, but unusual behaviour occurs unexpectedly.

How does a child with autism behave?

The autistic child closes himself in his own world. It is somewhat distorted, but so absorbing that the child does not see the need to talk to people around him.

A holistic developmental disorder occurs. The child avoids contact with peers and family. He stops talking to his mother for no reason and treats everyone around him like air. Doesn’t allow himself to be touched and becomes stiff when picked up, doesn’t feel like doing anything. Does not ask parents for super toys. It does not respond to pain. It does not rejoice when a hitherto beloved aunt drives by. When he gets his favourite ice cream – he does not show that he likes it very much.

Gentle signs (a grimace, other people’s gestures) have little meaning for it. You can smile at him with the sincerest tenderness and he will not pay any attention at all and will not perceive it as something nice.

The autistic child stops talking, and if he does speak, it is in a distorted, illogical way, constantly repeating words or slogans from television commercials. Instead of “I”, he says “you”, uses incomprehensible phrases.

The behaviour of a child with autism is stereotypical – he waves his hands or spins in circles. He becomes overly attached to certain objects. And if someone takes them away from him, he panics. He doesn’t like it when someone changes his existing habits. He likes to walk the same way, eat from the same plate, clean with the same brush. He resents changes in his daily routines.

Children with autism spectrum disorder often have a very selective and limited range of interests, and for this reason they are sometimes experts in narrow fields. They sometimes show an extraordinary memory, which, however, they do not use in everyday life, at school or in human contact.

Autistic children often feel anxious and easily aggressive and have disturbed sleep patterns.

Summary of symptoms present in autistic children. A child with autism spectrum disorder:

  • does not participate in play with peers;
  • likes solitude;
  • very rarely smiles;
  • is more interested in interacting with objects than with people;
  • has facial expressions that do not express much emotion;
  • tends to avoid eye contact with another person;
  • can be hyperactive and impulsive;
  • does not respond to his/her name;
  • often gets aggressive for no apparent reason;
  • hardly ever speaks and when he does, he uses words that have no meaning;
  • makes objects rotate monotonously;
  • sways, turns in one place continuously;
  • has difficulty interacting with other people;
  • if he/she talks, it is only about one subject;
  • is hypersensitive to sounds and touch;
  • sometimes does not react to pain
  • does not run and jump
  • no spontaneous reflexes.

It is also worth mentioning that children on the autism spectrum often also have comorbidities. Among the disorders often co-existing with infantile autism, the following are most frequently mentioned: intellectual disability, epilepsy, insomnia, attention deficit hyperactivity disorder (ADHD), food allergies, frequent gastrointestinal symptoms in childhood and minor infections.

Autism – diagnosis

There are no clear-cut medical tests that immediately give us an answer to the question of whether a child is suffering from autism. Blood or urine tests cannot diagnose this. In diagnosing autism, specialists primarily focus on observing the child’s behaviour and development.

The diagnosis of autism is divided into two stages

1. Examination of the child’s development: the specialist carries out a test to show whether the child has the basic skills for that period of life or whether he or she has some delays. During this examination, the doctor asks the parents a series of questions, such as whether the child is learning well, how he or she speaks, how he or she behaves, whether he or she moves properly.

This is important because a delay in any of these areas may indicate a developmental disorder. Every child who comes to the specialist is screened for developmental delay and disability at 9 months, 18 months, 24 months or 30 months respectively.

When a child is suspected to be at high risk of developmental disorders due to others in the family having autism, premature birth or low birth weight – additional screening tests are carried out. Children aged 1.5-2 years should be screened at screening.

2. Comprehensive assessment of the child – this is the second stage of diagnosis. The assessment of the child includes the child’s behaviour and interview with the parents, in addition, neurological and genetic tests and other medical tests may be performed. A more thorough assessment of the child is usually carried out by:

  • neurologists – who assess brain and nerve function;
  • developmental paediatricians – who assess the child’s development;
  • child psychologists or psychiatrists – who have knowledge of the human mind and use this to examine the patient.

ATTENTION
Always go to a specialist if you suspect that your child is not developing properly! Most often parents see psychologists or educationalists.

A psychological consultation can also be arranged online. An e-visit to a child psychologist gives you the opportunity to present your current problems without commuting to an outpatient clinic.

In diagnosing autism, it is important to distinguish whether one is dealing with autism, a simple disorder (hearing or vision problems) or a disorder of one of the developmental zones, e.g. speech. There are some conditions that may resemble autism, so this should be ruled out with the appropriate tests. Observing the child and talking to the parents/guardians are important elements needed to make a diagnosis. Educational abilities are examined by a multidisciplinary team .

In conclusion: based on the parents’ experience and observations, the following tests are worthwhile:

  • blood and urine tests
  • ENT examinations to rule out problems with the speech and hearing apparatus;
  • testing for toxoplasmosis and cytomegalovirus;
  • hearing tests – to rule out hearing problems;
  • neurological examinations – to rule out other neurological disorders;
  • eye tests – to rule out eye problems;
  • genetic or metabolic testing – often performed by the parents to rule out other conditions similar to autism.

In order to complete one of the first steps in assessing the child’s health, one can start by performing laboratory tests. The basic tests that diagnose the child’s health in one package provide initial information for the professionals carrying out the diagnosis.

Autism – diagnostic criteria

According to the ICD-10 classification, the criteria for childhood autism are divided into 3 subgroups.

Firstly, autism states abnormal or impaired development clearly evident before the age of 3 years in at least one of the following areas:

  • language comprehension and expression used in social communication;
  • development of selective social attachment or reciprocal social interaction;
  • functional or symbolic play.

In order for the adjudication team to make a diagnosis of autism spectrum disorder, there must be a total of at least six symptoms among those listed in points I, II and III, with at least two from point I and at least one each from points II and III.

I. Qualitative abnormalities of reciprocal social interaction, manifested in at least two of the following areas:

  • insufficient use of eye contact, facial expressions, body posture and gestures to regulate social interactions appropriately;
  • insufficient development of peer relationships involving mutual sharing of interests, activities and emotions;
  • lack of social-emotional reciprocity, manifested by impaired or different responses to others’ emotions, failure to modulate behaviour appropriately to the social context, poor integration of social, emotional and communicative behaviour,
  • lack of spontaneous need to share joys, interests or achievements with others.

II. Qualitative communication abnormalities manifested in one or more of the following areas:

  • delayed or complete lack of development of spoken language that does not involve an attempt to compensate with gestures or facial expressions as an alternative means of communication;
  • a relative paucity of initiative and persistence during conversations in which feedback to another person’s messages occurs;
  • stereotypical and repetitive idiosyncratic use of words and expressions;
  • lack of spontaneous variety in pretend play or play that mimics social roles.

III. Restricted, repetitive and stereotyped patterns of behaviour, interests and activities manifested in one or more of the following areas:

  • preoccupation with one or more stereotyped interests with abnormal content and focus, or one or more interests that are abnormal because of their intensity and limitation rather than their content and focus;
  • expressive compulsive attachment to specific, non-functional routine and ritualised activities;
  • stereotyped and repetitive motor mannerisms, including tapping or twisting fingers; or complex whole-body movements;
  • focus on partial or non-functional properties of play objects.

In addition, autism can be diagnosed if the current clinical picture cannot be explained:

  • other symptoms of holistic developmental disorders;
  • specific developmental language comprehension disorder with secondary social-emotional difficulties;
  • reactive attachment disorder or selective attachment disorder;
  • mental retardation with some features of emotional and behavioural disorders;
  • schizophrenia of unusually early onset
  • Rett syndrome.

Other classifications establishing criteria for the diagnosis of autism are also known, such as DSM-5 or DSM-IV, but the ICD-10 criteria are most commonly used in the diagnosis of autism spectrum disorder.

Autism – can this disorder be treated?

Autism can vary in severity from child to child. The child requires constant care. Treatment consists of various forms of psychotherapy – this should involve the whole family.

The earlier the therapeutic process is implemented, the better the chances of improved functioning.

The treatment of autism can take several dimensions. Therapeutic, pharmacological or dietary treatments are mentioned.

Therapeutic treatment is usually based on behavioural therapy, rehabilitation and special education. Therapy and classes take place in centres that specialise in treating autistic children. During the therapy, classes are held on communication disorders, behaviour or social skills training. The effectiveness of this type of therapy is linked to how early the child is referred to such a specialised centre. The earlier, the better the results.

Children on the autism spectrum are increasingly being offered music therapy, hippotherapy, dog therapy. Dolphin therapy, art therapy, but also jogging, dancing or martial arts.

Pharmacotherapy and especially antipsychotics such as risperidone and aripiprazole are only recommended in cases of persistent challenging behaviour.

It is not uncommon for autistic patients to be given methylphenidate or atomoxetine. These drugs help to reduce ADHD symptoms. The administration of anti-epileptic drugs has so far not shown very positive results.

It is worth mentioning that studies to date indicate that SSRI drugs such as fluoxetine, fluvoxamine and citalopram are not useful.

Proper diet is also important in the treatment of autism. Indeed, it appears that a significant proportion of people with autism may have gastrointestinal problems, but their relationship to the disorder is still unclear.

As an aid to autism therapy, it is useful to use weighted quilts to support anxiety and sensory disorders. The weighted quilts available at medonetmarket.co.uk come in different sizes and weights. You will find cotton quilts with minky for children, as well as year-round quilts for adults.

Autism – tips for parents

Consult your doctor if your child:

  • has impaired speech development, does not communicate with the environment;
  • does not establish social contact;
  • does not respond to names.

It is extremely important to start treatment as early as possible.

Source

  • http://www.medonet.pl/choroby-od-a-do-z/choroby-i-zaburzenia-psychiczne,autyzm—objawy–przyczyny-i-leczenie-u-dziecka-z-autyzmem,artykul,1586353.html
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